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Genetics and Genomics Commons

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Neuroscience and Neurobiology

City University of New York (CUNY)

2023

Using recombinant tau and the results revealed that the tau pathogenic mutations P301L and G389R increased the propensity of tau to phase separate and form coacervates with higher viscosity than wild type. I then hypothesized that tau mutants and wild type tau may also differentially impact cell function. This was studied by transfecting tau and its two mutants P301L and G389R

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Characterization Of Pathological Tau Mutants, Charles J. Mcdonald Sep 2023

Characterization Of Pathological Tau Mutants, Charles J. Mcdonald

Dissertations, Theses, and Capstone Projects

Tau is a protein expressed exclusively in glia and neurons in the central nervous system and implicated in several neurogenerative diseases called “tauopathies”. Among all the tauopathies, one third is characterized by the presence of genetic mutations leading to the synthesis of tau proteins with single amino acid substitutions at specific locations and affecting protein function. While most of the initial studies have emphasize the functional role of tau as modulator of the axonal cytoskeleton, it has recently been well accepted that tau is also an intrinsically disordered protein that tends to form membraneless organelles called coacervates, due to a …